Canonical Allele Identifier: CA006998
Gene: KCNH2 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.150948866T>C
GRCh37 chr7:g.150645954T>C
Revel Score:
ENST00000330883 0.908
ENST00000392968 0.908
ENST00000262186 (MANE Select) 0.908
ClinVar RCV:
RCV000181876
ClinVar Variation:
200471
dbSNP:
121912513
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150948866T>C , CM000669.2:g.150948866T>C GRCh38
NC_000007.13:g.150645954T>C , CM000669.1:g.150645954T>C GRCh37
NC_000007.12:g.150276887T>C NCBI36
NG_008916.1:g.34061A>G , LRG_288:g.34061A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.3415A>G
ENST00000262186.10:c.2582A>G MANE Select ENSP00000262186.5:p.Asn861Ser
ENST00000330883.9:c.1562A>G ENSP00000328531.4:p.Asn521Ser
ENST00000262186.9:c.2582A>G ENSP00000262186.5:p.Asn861Ser
ENST00000330883.8:c.1562A>G ENSP00000328531.4:p.Asn521Ser
NM_000238.3:c.2582A>G , LRG_288t1:c.2582A>G NP_000229.1:p.Asn861Ser
NM_172057.2:c.1562A>G , LRG_288t3:c.1562A>G NP_742054.1:p.Asn521Ser
XM_011516185.1:c.2282A>G XP_011514487.1:p.Asn761Ser
XM_011516186.1:c.2582A>G XP_011514488.1:p.Asn861Ser
XM_011516185.2:c.2282A>G XP_011514487.1:p.Asn761Ser
XM_011516186.3:c.2582A>G XP_011514488.1:p.Asn861Ser
XM_017012195.1:c.2432A>G XP_016867684.1:p.Asn811Ser
XM_017012196.1:c.2405A>G XP_016867685.1:p.Asn802Ser
NM_000238.4:c.2582A>G MANE Select NP_000229.1:p.Asn861Ser
NM_172057.3:c.1562A>G NP_742054.1:p.Asn521Ser
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